MCID: LMT001
MIFTS: 47

Limited Scleroderma

Categories: Bone diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 12 15 17
Limited Cutaneous Systemic Sclerosis 12 20 58
Systemic Sclerosis Sine Scleroderma 20 58 71
Limited Cutaneous Systemic Scleroderma 20 58
Limited Systemic Sclerosis 20 58
Scleroderma, Limited 44 71
Crest Syndrome 20 71
Progressive Systemic Sclerosis Sine Scleroderma 20
Systemic Sclerosis, Limited 12
Scleroderma, Sine 20

Characteristics:

Orphanet epidemiological data:

58
limited cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
limited systemic sclerosis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:1577
MeSH 44 D045745
SNOMED-CT 67 128459005
ICD10 via Orphanet 33 M34.0 M34.1
UMLS 71 C0206138 C0748540 C1290138

Summaries for Limited Scleroderma

GARD : 20 Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual.

MalaCards based summary : Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to scleroderma, familial progressive and telangiectasis. An important gene associated with Limited Scleroderma is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are IL12-mediated signaling events and Innate Lymphoid Cell Differentiation Pathways. The drugs Ropivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and endothelial, and related phenotypes are autoimmunity and hypopigmented skin patches

Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 346)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 31.2 TOP1 FBL CENPB CCN2
2 telangiectasis 31.1 TRIM21 TOP1 SNRNP70 FBL EXOSC10 CENPS
3 systemic scleroderma 31.0 TSSK1B TRIM21 TOP1 SNRNP70 IRF5 FBL
4 diffuse cutaneous systemic sclerosis 30.8 IRF5 HLA-DRB1 CCR6 CCN2 CAV1
5 primary biliary cholangitis 30.6 IRF5 HLA-DRB1 CENPB CCR6
6 myositis 30.6 TRIM21 IL2 HLA-DRB1 FBL
7 lupus erythematosus 30.6 TRIM21 SNRNP70 IRF5 HLA-DRB1
8 crest syndrome 30.6 TOP1 SNRNP70 FBL EXOSC10 CENPS CENPC
9 sarcoidosis 1 30.4 IL2RA IL2 HLA-DRB1 CCR6
10 collagen disease 30.4 TRIM21 SNRNP70 CCR6
11 gastric antral vascular ectasia 30.3 TOP1 CENPS
12 temporal arteritis 30.2 IL2 HLA-DRB1 CCR6
13 connective tissue disease 30.2 TOP1 SNRNP70 IL2 HLA-DRB1 FBL CENPC
14 diffuse scleroderma 30.2 TSSK1B TRIM21 TOP1 SNRNP70 FBL EXOSC10
15 juvenile rheumatoid arthritis 30.2 IL2RA IL2 HLA-DRB1
16 systemic lupus erythematosus 30.1 TRIM21 SNRNP70 KIAA0319L IRF5 IL2RA IL2
17 autoimmune disease 30.0 TRIM21 IRF5 IL2RA IL2 HLA-DRB1 FBL
18 raynaud disease 30.0 TRIM21 TOP1 SNRNP70 EXOSC10 CENPB CENPA
19 dyskinesia of esophagus 30.0 TSSK1B TRIM21 TOP1 SNRNP70 FBL EXOSC10
20 telangiectasia, hereditary hemorrhagic, type 4 11.2
21 conjunctival vascular disease 10.5 TRIM21 TOP1
22 recurrent respiratory papillomatosis 10.5 IL2 HLA-DRB1
23 tuberculoid leprosy 10.5 IL2RA IL2 CCR6
24 t-cell adult acute lymphocytic leukemia 10.5 IL2RA IL2 CCR6
25 subacute cutaneous lupus erythematosus 10.5 TRIM21 IRF5
26 red cell aplasia 10.5 IL2RA IL2 HLA-DRB1
27 pars planitis 10.5 IL2 HLA-DRB1 CCR6
28 refractory hairy cell leukemia 10.5 IL2RA HLA-DRB1
29 immunodeficiency 63 with lymphoproliferation and autoimmunity 10.5 IL2RA IL2
30 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.5 IL2RA IL2 CCR6
31 central nervous system vasculitis 10.5 IL2 HLA-DRB1 CCR6
32 pure red-cell aplasia 10.5 IL2RA IL2 HLA-DRB1
33 posterior uveitis 10.5 IL2RA IL2 CCR6
34 autoimmune gastritis 10.5 IL2 HLA-DRB1 CCR6
35 metal allergy 10.5 IL2 HLA-DRB1
36 facial hemiatrophy 10.4 SNRNP70 EXOSC10
37 herpes zoster 10.4 IL2 HLA-DRB1 CCR6
38 pulmonary sarcoidosis 10.4 IL2RA IL2 CCR6
39 exanthem 10.4 TRIM21 IL2 CCR6
40 lymph node disease 10.4 TRIM21 IL2 CCR6
41 salivary gland disease 10.4 TRIM21 IL2 CCR6
42 trochlear nerve disease 10.4 TRIM21 HLA-DRB1
43 intermediate uveitis 10.4 IL2RA IL2 HLA-DRB1 CCR6
44 adult t-cell leukemia 10.4 IL2RA IL2 CCR6
45 autoimmune disease of endocrine system 10.4 IL2RA IL2 HLA-DRB1 CCR6
46 leprosy 3 10.4 IL2 HLA-DRB1 CCR6
47 pulmonary arterial hypertension associated with congenital heart disease 10.4 CCN2 CAV1
48 cutaneous candidiasis 10.4 IL2RA CCR6
49 hypersensitivity reaction type iv disease 10.4 TRIM21 IL2 HLA-DRB1 CCR6
50 alopecia areata 10.4 IL2RA IL2 HLA-DRB1

Graphical network of the top 20 diseases related to Limited Scleroderma:



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
2 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
3 narrow foramen obturatorium 58 31 hallmark (90%) Very frequent (99-80%) HP:0100958
4 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
7 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
8 mucosal telangiectasiae 58 31 frequent (33%) Frequent (79-30%) HP:0100579
9 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
10 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
11 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
12 contractures involving the joints of the feet 58 31 occasional (7.5%) Occasional (29-5%) HP:0008366
13 joint contracture of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0009473
14 abnormality of skin pigmentation 58 Very frequent (99-80%)
15 abnormality of the skin 58 Very frequent (99-80%)

Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
2 Anesthetics Phase 4
3 Anesthetics, Local Phase 4
4
Sodium citrate Approved, Investigational Phase 3 68-04-2
5
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
7 Citrate Phase 3
8 Phosphodiesterase Inhibitors Phase 3
9 Phosphodiesterase 5 Inhibitors Phase 3
10 Sildenafil Citrate Phase 3 171599-83-0
11 Anticoagulants Phase 3
12 Calcium, Dietary Phase 3
13 Chelating Agents Phase 3
14 Vasodilator Agents Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16 Ifetroban Investigational Phase 2 143443-90-7
17 Platelet Aggregation Inhibitors Phase 2
18
Racepinephrine Approved 329-65-7 838
19
Epinephrine Approved, Vet_approved 51-43-4 5816
20
Nitric Oxide Approved 10102-43-9 145068
21 Pharmaceutical Solutions
22 Epinephryl borate
23 Analgesics
24 Analgesics, Opioid

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Intérêt du TFP (Transversalis Fascia Plane) Bloc échoguidé Pour l'analgésie du prélèvement Osseux de crête Iliaque Completed NCT02398474 Phase 4 TFP block ropivacaine;ropivacaine infiltration of the iliac crest bone
2 Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
3 Chemical Sympathectomy Following Peripheral Nerve Block With Liposomal Bupivacaine Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
4 A Phase 2 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Ifetroban in Patients With Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT02682511 Phase 2 Oral Ifetroban;Oral Placebo
5 Comparative Clinical Study of the Prevention of the Reduction of Alveolar Crest by Alveoli Filling With an Injectable Calcium Phosphate After Extraction of Mandibular Molar or Pre Molar Unknown status NCT00740311
6 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
7 The Analgesic Efficacy of the Transversalis Fascia Plane Block in Iliac Crest Bone Graft Harvesting Completed NCT01133730 Active treatment;Placebo Arm
8 A Prospective Pilot Study on the Performance of The Plexur P™ Bone Void Filler Completed NCT00837473
9 Metabolomic Analysis of Systemic Sclerosis Recruiting NCT02298777
10 Localized Effects of Photobiomodulation and Exogenous Nitric Oxide on CREST Patients Calcinosis Cutis & Raynaud Phenomenon Not yet recruiting NCT03972566 INOMAX
11 A Multicenter, Prospective, Longitudinal Study to Evaluate Gastrointestinal Function and Clinical and Molecular Biomarkers in Subjects With Early and Late Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis, and Healthy Volunteers Withdrawn NCT02531009
12 Investigating Hyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease Withdrawn NCT04656704 Early Phase 1 hyaluronidase injected intradermally

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

MalaCards organs/tissues related to Limited Scleroderma:

40
Bone, Skin, Endothelial, Thyroid, Breast, Smooth Muscle, T Cells

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 227)
# Title Authors PMID Year
1
Pauci-Immune Necrotizing Glomerulonephritis as a Manifestation of Systemic Sclerosis Sine Scleroderma. 61
31789998 2021
2
Systemic Sclerosis Sine Scleroderma After Silicone Breast Implants. 61
33337809 2020
3
A 45-Year-Old Man with Scleroderma Renal Crisis Associated with a History of Systemic Sclerosis Sine Scleroderma. 61
33230093 2020
4
A 50-Year-Old Woman With Limited Scleroderma Presenting With Shortness of Breath. 61
32654737 2020
5
Galectin-1 and Galectin-3 Expression in Lesional Skin of Patients With Systemic Sclerosis-Association With Disease Severity. 61
32501939 2020
6
Systemic Sclerosis Sine Scleroderma With Pulmonary Arterial Hypertension in a 3-Year-Old Girl. 61
32269136 2020
7
Pulmonary nodular and cystic light chain deposition disease: A retrospective review of 10 cases. 61
32217287 2020
8
Sine Scleroderma. 61
32610852 2020
9
Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review. 61
32801944 2020
10
Calcinosis Cutis as the Initial Manifestation of Limited Scleroderma. 61
31985726 2020
11
Periostin is induced by IL-4/IL-13 in dermal fibroblasts and promotes RhoA/ROCK pathway-mediated TGF-β1 secretion in abnormal scar formation. 61
31066603 2019
12
The evaluation of a home-based program for hands in patients with systemic sclerosis. 61
29198478 2019
13
Pulmonary hypertension in Spanish patients with systemic sclerosis. Data from the RESCLE registry. 61
30535994 2019
14
Chronic Eroded Perianal Plaque in a Patient with Limited Systemic Scleroderma. 61
31782710 2019
15
Involvement of Periostin in Skin Function and the Pathogenesis of Skin Diseases. 61
31037628 2019
16
Connective Tissue Disease: Current Concepts. 61
30466687 2019
17
Comparing ultraviolet light A photo(chemo)therapy with Methotrexate protocol in childhood localized scleroderma: Evidence from systematic review and meta-analysis approach. 61
29655520 2018
18
Anti-RO 52-positive systemic sclerosis sine scleroderma with multisystem involvement and recurrent vasculitis. 61
30073982 2018
19
Improving life expectancy of patients with scleroderma: results from the South Australian Scleroderma Register. 61
29573101 2018
20
Autoantibodies and scleroderma phenotype define subgroups at high-risk and low-risk for cancer. 61
29678941 2018
21
Systemic Sclerosis Sine Scleroderma in Mexican Patients. Case Reports. 61
28065485 2018
22
[RHEOLOGICAL PROPERTIES OF BLOOD SERUM AT SYSTEMIC SCLEROSIS]. 61
29697389 2018
23
Assessing the response of morphea and limited scleroderma to tranilast: a small prospective study comparing topical corticosteroids to a combination of topical corticosteroids and tranilast. 61
30013378 2018
24
Periostin in the pathogenesis of skin diseases. 61
28916993 2017
25
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. 61
29308290 2017
26
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). 61
27353193 2017
27
Choroidal and central foveal thickness in patients with scleroderma and its systemic associations. 61
27864836 2017
28
[Research of systemic sclerosis sine scleroderma]. 61
28870043 2017
29
Systemic sclerosis sine scleroderma. 61
29068586 2017
30
The Therapeutic Efficacy of Botulinum Toxin in Treating Scleroderma-Associated Raynaud's Phenomenon: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. 61
28426903 2017
31
Replacing a phosphodiesterase-5 inhibitor with riociguat in patients with connective tissue disease-associated pulmonary arterial hypertension: a case series. 61
28671485 2017
32
Scleroderma Induced by Pembrolizumab: A Case Series. 61
28599746 2017
33
Anterior ST-elevation myocardial infarction induced by rituximab infusion: A case report and review of the literature. 61
28440561 2017
34
Successful long-term (22 year) treatment of limited scleroderma using therapeutic plasma exchange: Is blood rheology the key? 61
27340761 2017
35
Survival protection by bodyweight in isolated scleroderma-related pulmonary artery hypertension. 61
27052360 2016
36
Comparison of the clinical utility of the Elia CTD Screen to indirect immunofluorescence on Hep-2 cells. 61
26677892 2016
37
Anti-Interferon-Inducible Protein 16 Antibodies Associate With Digital Gangrene in Patients With Scleroderma. 61
26714268 2016
38
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. 61
26709524 2016
39
Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. Pracoń, M. Płaza, M. Walentowska-Janowicz, I. Sudoł-Szopińska The value of ultrasound in the diagnosis of limited scleroderma - a case report. 61
27104009 2016
40
Development of systemic sclerosis in patients with autoimmune hepatitis: an emerging overlap syndrome. 61
27458514 2016
41
A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma. 61
27559487 2016
42
Polymyositis and the Spectrum of Scleroderma Disorders. 61
30755854 2016
43
The value of ultrasound in the diagnosis of limited scleroderma - a case report. 61
26675049 2015
44
Pilot study to determine whether transient receptor potential melastatin type 8 (TRPM8) antibodies are detected in scleroderma. 61
26242276 2015
45
Systemic sclerosis sine scleroderma: a case report of anterior uveitis. 61
26150271 2015
46
Multiple intracerebral hemorrhages in a patient with systemic sclerosis sine scleroderma. 61
24993862 2015
47
[Autoantibodies in systemic sclerosis and their clinical correlation in patients from a Midwestern region of Brazil]. 61
25559063 2015
48
Osteonecrosis of multiple joints in a patient with limited scleroderma/CREST syndrome. 61
25807102 2015
49
[Usefulness of gastric emptying scintigraphy for the evaluation and management of scleroderma related gastroparesis]. 61
26076515 2015
50
Digital Ulcers, Systemic Sclerosis Sine Scleroderma and Paraneoplastic Phenomena Responding to Bosentan Therapy. 61
26223094 2015

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

Pathways related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.38 IL2RA IL2 HLA-DRB1
2 11.03 IL2RA IL2 CCR6
3 10.25 IL2RA IL2 HLA-DRB1

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.63 TOP1 FBL CENPS CENPC CENPB CENPA
2 chromosome, centromeric region GO:0000775 9.56 CENPS CENPC CENPB CENPA
3 condensed chromosome kinetochore GO:0000777 9.54 CENPS CENPC CENPA
4 condensed nuclear chromosome kinetochore GO:0000778 9.32 CENPC CENPA
5 condensed chromosome, centromeric region GO:0000779 9.13 CENPC CENPB CENPA
6 pericentric heterochromatin GO:0005721 8.8 CENPC CENPB CENPA

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interferon-gamma-mediated signaling pathway GO:0060333 9.5 TRIM21 IRF5 HLA-DRB1
2 regulation of regulatory T cell differentiation GO:0045589 9.43 IL2RA IL2
3 positive regulation of viral entry into host cell GO:0046598 9.4 TRIM21 HLA-DRB1
4 interleukin-2-mediated signaling pathway GO:0038110 9.37 IL2RA IL2
5 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPS CENPC CENPA
6 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2RA IL2
7 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2RA IL2
8 kinetochore assembly GO:0051382 8.8 CENPS CENPC CENPA

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centromeric DNA binding GO:0019237 8.62 CENPC CENPB

Sources for Limited Scleroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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